Variant (rsID / SNP)
rs1532268
rs1532268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MTRR. Location: chromosome 5, position 7,878,179. Clinical significance in the table: Benign.
Reference-table entries
MTRRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:7878179
- Cytoband
- 5p15.31
- HGVS
- NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)
- Allele change
- Missense_S175L
Associated conditions / phenotypes
Gastrointestinal stromal tumor|Disorders of Intracellular Cobalamin Metabolism|Methylcobalamin deficiency type cblE
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.